A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4218511



Internal ID20422501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29876323..29894563hg38UCSC Ensembl
chr13:30450460..30468700hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3818241
hg1918241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953864
Samples
Known GenesLINC00297
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4218511
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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